ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.3054C>A (p.His1018Gln)

dbSNP: rs377580656
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002039855 SCV002113215 likely benign not provided 2024-02-05 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003146260 SCV003828793 uncertain significance Developmental and epileptic encephalopathy, 69 2020-04-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003146260 SCV004179624 uncertain significance Developmental and epileptic encephalopathy, 69 2023-04-11 criteria provided, single submitter clinical testing

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